Mitochondrial disease

Gene: MRPS22

Green List (high evidence)

Variant affects mito function -> COPD
Variant doesn’t affect mito function -> OD
- Homozygous missense have been reported to cause either condition, functional evidence the only difference.
- Chet (missense/PTC) have been reported to cause COPD
- Structural analysis suggests that variant location could explain the different phenotypes: missense variants identified in individuals with the milder OD phenotype are situated in an internal region of MRPS22 while missense variants identified in individuals with the more severe COPD phenotype are postulated to indirectly cause disruption of protein:protein interfaces (this is from one report (PMID: 29566152) and more evidence is needed to confirm this)

Created: 8 Jan 2021, 1:53 a.m. | Last Modified: 8 Jan 2021, 1:53 a.m.

Panel Version: 0.6019

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 5 MIM#611719; Ovarian dysgenesis 7 MIM#618117

Publications

• PMID: 29566152

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 5, MIM# 611719

Publications

• 17873122
• 25663021
• 28752220